Mutagenetix > Incidental Mutation

Incidental Mutation 'R9151:Ccdc24'

695021

Institutional Source

Beutler Lab

Gene Symbol

Ccdc24

Ensembl Gene

ENSMUSG00000078588

Gene Name

coiled-coil domain containing 24

Synonyms

LOC381546

MMRRC Submission

068973-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9151 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

117725946-117729808 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 117727102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 83 (T83A)

Ref Sequence

ENSEMBL: ENSMUSP00000126161 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030266] [ENSMUST00000030269] [ENSMUST00000063857] [ENSMUST00000084325] [ENSMUST00000106421] [ENSMUST00000106422] [ENSMUST00000131938] [ENSMUST00000167287] [ENSMUST00000149168] [ENSMUST00000163288] [ENSMUST00000164853] [ENSMUST00000166325] [ENSMUST00000167443] [ENSMUST00000169885] [ENSMUST00000171052]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000030266

SMART Domains

Protein: ENSMUSP00000030266
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	228	4.2e-59	PFAM
Pfam:Glyco_transf_7C	232	310	2.1e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000030269

SMART Domains

Protein: ENSMUSP00000030269
Gene: ENSMUSG00000028542

Domain	Start	End	E-Value	Type
Pfam:SNF	27	562	5.1e-234	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000063857

SMART Domains

Protein: ENSMUSP00000066102
Gene: ENSMUSG00000028542

Domain	Start	End	E-Value	Type
Pfam:SNF	27	562	5.1e-234	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000084325

SMART Domains

Protein: ENSMUSP00000081352
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	230	1.9e-47	PFAM
Pfam:Glyco_transf_7C	232	310	2.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106421

SMART Domains

Protein: ENSMUSP00000102029
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	230	1.9e-47	PFAM
Pfam:Glyco_transf_7C	232	310	2.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106422

SMART Domains

Protein: ENSMUSP00000102030
Gene: ENSMUSG00000078588

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
coiled coil region	133	158	N/A	INTRINSIC
low complexity region	254	266	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000131938

Predicted Effect

unknown
Transcript: ENSMUST00000167287
AA Change: T83A

SMART Domains

Protein: ENSMUSP00000126161
Gene: ENSMUSG00000078588
AA Change: T83A

Domain	Start	End	E-Value	Type
coiled coil region	13	38	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000149168

SMART Domains

Protein: ENSMUSP00000129359
Gene: ENSMUSG00000028542

Domain	Start	End	E-Value	Type
low complexity region	91	116	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163288

SMART Domains

Protein: ENSMUSP00000127289
Gene: ENSMUSG00000028542

Domain	Start	End	E-Value	Type
Pfam:SNF	46	566	2.1e-212	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164853

SMART Domains

Protein: ENSMUSP00000132114
Gene: ENSMUSG00000078588

Domain	Start	End	E-Value	Type
low complexity region	17	46	N/A	INTRINSIC
coiled coil region	133	158	N/A	INTRINSIC
low complexity region	254	266	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000166325

SMART Domains

Protein: ENSMUSP00000131493
Gene: ENSMUSG00000078588

Domain	Start	End	E-Value	Type
coiled coil region	33	57	N/A	INTRINSIC
low complexity region	61	90	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167443

SMART Domains

Protein: ENSMUSP00000128771
Gene: ENSMUSG00000028541

Domain	Start	End	E-Value	Type
transmembrane domain	13	35	N/A	INTRINSIC
Pfam:Glyco_transf_7N	94	188	1.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169885

SMART Domains

Protein: ENSMUSP00000127093
Gene: ENSMUSG00000028542

Domain	Start	End	E-Value	Type
Pfam:SNF	1	450	1.2e-182	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171052

SMART Domains

Protein: ENSMUSP00000129502
Gene: ENSMUSG00000078588

Domain	Start	End	E-Value	Type
Pfam:CCDC24	21	201	3.9e-67	PFAM
low complexity region	282	294	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (71/71)

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,188,908 (GRCm39)	F850L	probably benign	Het
Adam1a	A	T	5: 121,657,411 (GRCm39)	D627E	probably damaging	Het
Add2	C	A	6: 86,081,459 (GRCm39)		probably benign	Het
Anpep	T	C	7: 79,491,785 (GRCm39)	N72S	probably benign	Het
Aqp6	A	G	15: 99,501,655 (GRCm39)	T238A	possibly damaging	Het
Arhgef38	G	T	3: 132,912,706 (GRCm39)	T111K		Het
Atg10	A	G	13: 91,189,032 (GRCm39)	Y93H	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cald1	A	G	6: 34,732,682 (GRCm39)	N286S	unknown	Het
Caps2	A	T	10: 112,031,829 (GRCm39)	I322F	possibly damaging	Het
Cbx3	T	A	6: 51,455,533 (GRCm39)	S95T	probably benign	Het
Cntn1	T	C	15: 92,140,864 (GRCm39)	Y197H	probably damaging	Het
Cpd	A	G	11: 76,675,275 (GRCm39)	I1282T	possibly damaging	Het
Crat	A	T	2: 30,295,052 (GRCm39)	S454R	probably damaging	Het
D2hgdh	G	A	1: 93,754,338 (GRCm39)	V126I	probably benign	Het
Dcst1	A	G	3: 89,271,558 (GRCm39)	V75A	probably benign	Het
Dnm1l	T	C	16: 16,176,668 (GRCm39)	D21G	probably benign	Het
Evc2	A	G	5: 37,504,823 (GRCm39)	N74D	probably benign	Het
Gm19965	A	T	1: 116,748,942 (GRCm39)	M208L		Het
Gprc6a	T	G	10: 51,497,182 (GRCm39)	T454P	possibly damaging	Het
Gprin1	C	T	13: 54,886,778 (GRCm39)	V499M	probably benign	Het
Gtf3c5	A	G	2: 28,463,577 (GRCm39)	Y194H	probably damaging	Het
Hcn4	T	C	9: 58,767,880 (GRCm39)	V1147A	possibly damaging	Het
Ighv1-82	A	C	12: 115,916,342 (GRCm39)	V56G	probably damaging	Het
Ins2	T	C	7: 142,232,505 (GRCm39)	D93G	possibly damaging	Het
Itgb8	A	G	12: 119,130,535 (GRCm39)	S658P	probably benign	Het
Kcnmb1	T	C	11: 33,920,263 (GRCm39)	F159L	probably benign	Het
Klf1	C	T	8: 85,629,954 (GRCm39)	L260F	probably benign	Het
Larp4	T	A	15: 99,888,205 (GRCm39)	S140T	possibly damaging	Het
Maneal	C	A	4: 124,755,542 (GRCm39)	R140L	probably benign	Het
Mfsd11	T	A	11: 116,750,323 (GRCm39)	V114D		Het
Muc4	A	G	16: 32,752,617 (GRCm38)	T832A	probably benign	Het
Myh11	T	G	16: 14,050,439 (GRCm39)	I509L		Het
Myh13	A	T	11: 67,252,149 (GRCm39)	E1419V	probably damaging	Het
Myh7b	A	G	2: 155,474,439 (GRCm39)	E1718G	probably damaging	Het
Myo9b	T	A	8: 71,807,871 (GRCm39)		probably benign	Het
Notch1	A	T	2: 26,367,939 (GRCm39)	L656Q	probably benign	Het
Nova1	A	G	12: 46,746,813 (GRCm39)	I488T	probably damaging	Het
Or51r1	A	T	7: 102,228,500 (GRCm39)	E266V	probably damaging	Het
Or5b113	A	T	19: 13,342,222 (GRCm39)	T77S	possibly damaging	Het
Or5b21	A	G	19: 12,839,976 (GRCm39)	Y279C	probably damaging	Het
Or5d18	A	G	2: 87,864,697 (GRCm39)	V262A	probably damaging	Het
Or6c35	A	G	10: 129,169,623 (GRCm39)	N291S	probably damaging	Het
Or6d13	A	T	6: 116,517,990 (GRCm39)	N192I	possibly damaging	Het
Pax6	C	T	2: 105,523,097 (GRCm39)	S325L	probably benign	Het
Phldb1	T	C	9: 44,619,740 (GRCm39)	D142G	probably null	Het
Phldb3	T	G	7: 24,324,048 (GRCm39)		probably benign	Het
Pikfyve	G	T	1: 65,235,898 (GRCm39)	R190L	probably damaging	Het
Plagl2	A	T	2: 153,074,540 (GRCm39)	H120Q	probably damaging	Het
Pou2f1	A	T	1: 165,703,640 (GRCm39)		probably benign	Het
Pramel58	A	G	5: 94,831,836 (GRCm39)	Y281C	possibly damaging	Het
Prpf6	A	G	2: 181,250,001 (GRCm39)	R54G	possibly damaging	Het
Prss33	T	C	17: 24,052,966 (GRCm39)	E236G	probably benign	Het
Ptpru	T	C	4: 131,522,278 (GRCm39)	Y709C	probably benign	Het
Rcc1l	A	G	5: 134,197,057 (GRCm39)	V212A	probably benign	Het
Rtl1	G	A	12: 109,560,007 (GRCm39)	L611F		Het
Scp2	A	G	4: 107,931,603 (GRCm39)	I344T	possibly damaging	Het
Serpinb2	A	T	1: 107,449,890 (GRCm39)	D101V	possibly damaging	Het
Slc13a1	T	C	6: 24,097,662 (GRCm39)	T422A	probably damaging	Het
Slc38a10	G	T	11: 120,007,762 (GRCm39)	T406K	probably benign	Het
Smad4	T	C	18: 73,782,806 (GRCm39)	E376G	probably damaging	Het
Smarcb1	T	C	10: 75,750,916 (GRCm39)	E115G	probably benign	Het
Spata31h1	A	T	10: 82,120,928 (GRCm39)	H4027Q	probably damaging	Het
Taf5	G	A	19: 47,063,370 (GRCm39)	V307I	probably damaging	Het
Tnc	T	C	4: 63,938,686 (GRCm39)	N51S	possibly damaging	Het
Trp53inp2	G	T	2: 155,228,558 (GRCm39)	R171L	possibly damaging	Het
Ttc13	A	T	8: 125,402,021 (GRCm39)	D579E	probably benign	Het
Ttn	A	T	2: 76,775,896 (GRCm39)	N1761K	unknown	Het
Ttpa	C	T	4: 20,008,401 (GRCm39)		probably benign	Het
Ugt3a1	G	A	15: 9,362,051 (GRCm39)	V276I	probably benign	Het
Usp4	T	A	9: 108,244,011 (GRCm39)	H296Q	probably benign	Het
Vmn1r119	T	A	7: 20,745,593 (GRCm39)	H263L	possibly damaging	Het
Vmn2r81	A	G	10: 79,103,905 (GRCm39)	D176G		Het
Wdr1	A	T	5: 38,687,468 (GRCm39)		probably benign	Het
Zfp488	T	G	14: 33,692,695 (GRCm39)	Q156P	possibly damaging	Het

Other mutations in Ccdc24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00586:Ccdc24	APN	4	117,729,243 (GRCm39)	missense	probably damaging	1.00
IGL02396:Ccdc24	APN	4	117,726,826 (GRCm39)	missense	possibly damaging	0.91
IGL03122:Ccdc24	APN	4	117,728,942 (GRCm39)	critical splice donor site	probably null
fusarium	UTSW	4	117,728,374 (GRCm39)	nonsense	probably null
R1473:Ccdc24	UTSW	4	117,727,101 (GRCm39)	splice site	probably benign
R1488:Ccdc24	UTSW	4	117,727,765 (GRCm39)	missense	possibly damaging	0.88
R1986:Ccdc24	UTSW	4	117,729,213 (GRCm39)	missense	probably damaging	1.00
R2233:Ccdc24	UTSW	4	117,727,113 (GRCm39)	missense	possibly damaging	0.53
R4983:Ccdc24	UTSW	4	117,729,297 (GRCm39)	missense	probably benign	0.06
R5250:Ccdc24	UTSW	4	117,726,826 (GRCm39)	missense	possibly damaging	0.91
R5677:Ccdc24	UTSW	4	117,727,077 (GRCm39)	intron	probably benign
R6092:Ccdc24	UTSW	4	117,729,645 (GRCm39)	nonsense	probably null
R6265:Ccdc24	UTSW	4	117,728,374 (GRCm39)	nonsense	probably null
R6284:Ccdc24	UTSW	4	117,726,850 (GRCm39)	splice site	probably null
R6736:Ccdc24	UTSW	4	117,727,732 (GRCm39)	missense	possibly damaging	0.81
R6814:Ccdc24	UTSW	4	117,727,123 (GRCm39)	missense	probably benign	0.02
R6872:Ccdc24	UTSW	4	117,727,123 (GRCm39)	missense	probably benign	0.02
R7016:Ccdc24	UTSW	4	117,728,313 (GRCm39)	missense	probably null	1.00
R7073:Ccdc24	UTSW	4	117,729,201 (GRCm39)	missense	probably damaging	1.00
R9199:Ccdc24	UTSW	4	117,728,313 (GRCm39)	missense	probably null	1.00
R9345:Ccdc24	UTSW	4	117,729,691 (GRCm39)	nonsense	probably null
R9443:Ccdc24	UTSW	4	117,728,355 (GRCm39)	missense	probably benign	0.00
R9597:Ccdc24	UTSW	4	117,729,348 (GRCm39)	missense	probably damaging	1.00
Z1088:Ccdc24	UTSW	4	117,728,260 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TAGCTGTACCGAAGTTGCCG -3'
(R):5'- AATGCCTACCCTGGGAGGTAAG -3'

Sequencing Primer
(F):5'- TACCGAAGTTGCCGTCCCC -3'
(R):5'- TAAGGTCCCCAGGCGAG -3'

Posted On

2022-01-20